PDF(Pubmed)
Abstract：
Recent advances in molecular genetics have expanded our knowledge of renal tumors and enabled a better classification. These studies have revealed that renal tumors with predominantly \"eosinophilic/oncocytic\" cytoplasm include several novel biological subtypes beyond the traditionally well-recognized renal oncocytoma and an eosinophilic variant of chromophobe renal cell carcinoma. Herein, we present a comprehensive review of the eosinophilic vacuolated tumor (EVT) building upon a case report including radiology, histopathology, electron microscopy, and next-generation sequencing. EVTs are characterized by mTORC1 activation. We speculate that loss of chromosome 1 in EVT with MTOR mutation may be driven in part by an advantage conferred by loss of the remaining MTOR wild-type allele. mTORC1 is best known for its role in promoting protein translation and it is interesting that dilated cisterns of rough endoplasmic reticulum (ER) likely account for the cytoplasmic vacuoles seen by light microscopy. We present an integrated view of EVT as well as cues that can assist in the differential diagnosis.
摘要：
分子遗传学的最新进展扩大了我们对肾肿瘤的认识，并实现了更好的分类。这些研究表明，主要具有“嗜酸性细胞/嗜酸性细胞”细胞质的肾肿瘤包括传统公认的肾嗜酸性细胞瘤和嗜酸性细胞肾细胞癌的嗜酸性变体之外的几种新型生物学亚型。在这里，我们在包括放射学在内的病例报告的基础上，对嗜酸性粒细胞空泡状肿瘤（EVT）进行了全面的综述，组织病理学,电子显微镜，和下一代测序。EVT的特征在于mTORC1激活。我们推测，具有MTOR突变的EVT中1号染色体的丢失可能部分是由剩余MTOR野生型等位基因丢失所赋予的优势所驱动的。mTORC1以其促进蛋白质翻译的作用而闻名，有趣的是，粗糙内质网（ER）的扩张池可能是光学显微镜观察到的细胞质液泡的原因。我们提出了EVT的综合视图以及可以帮助鉴别诊断的线索。
